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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Suggest treatment for neurofibromatosis

Hi. I recently discovered that my 12 year old adopted son has what I presume to be neurofibromatosis. We have a regular check up appt next week and I am wondering if I should put his diagnosis and follow thru in their hands or call a clinic myself to arrange diagnosis. Thank you.
Tue, 11 Oct 2016
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Neurologist 's  Response
Hello! Neurofibromatosis is a disorder that refers to genetically inherited conditions. There are two types Neurofibromatosis Type 1 and Type 2
The most common condition is NF1, which is a multisystemic genetic disorder. It is characterized by some brownish spots in the skin (which are knwon as cafe-au-lait spots because of their color), axillar freckling, skeletal abnormalities, and growth of, tumors wich are called neurofibromas which are benign, or gliomas of the optiv nerve. The diagnosis is usually made clinically and the confirmation is made by a genetic examination (molecular testing). The patient usually have a first -degree relative affected. In many cases even if the child doesn't have visual loss an MRI is required to find out if optic gliomas, but routine examinations are focused in usually complications chech of blood pressure, growth and learning development evaluation, eye exam, skeletal changes, There isn't any cure, for this conditions, but based on complicatios and eventualities some measure can be taken (like removal of neurofibromas, surgery and chemiotherapi for gliomas etc)
Neurofibromatosis 2 is also genetic inherited, but it is characterized by the development of central nervous system differnt tumors (shchwanoma, meningioma, glioma) The diagnosi is made by genetic testing, MRI and eye and hearin exams. A neurological evaluation, Mria and eye&ear exams have to be annual controls.
I would suggest for you to wait for the appointment and i'm sure that they will arrange the examinations and follow-up.
I hope i have been of help.

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